Matches in SemOpenAlex for { <https://semopenalex.org/work/W2077295296> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W2077295296 abstract "The negative electroretinogram (ERG) is observed in many hereditary retinal disorders. However, no reports have described a negative ERG in a family with autosomal dominant cone-rod dystrophy. A Japanese family with autosomal dominant cone-rod dystrophy with negative ERG is described.Members of a Japanese family with autosomal dominant cone-rod dystrophy were examined and evaluated with Goldmann and Humphrey perimetry, bright flash ERG with an intense white stimulus, rod, cone, and flicker ERGs, and fluorescein angiography. Molecular analysis of the rhodopsin and peripherin/RDS genes in the patients was also performed.A 45-year-old Japanese man (proband) presented with decreased visual acuity. His fundi revealed bull's eye maculopathy and his single flash bright ERG showed a negative configuration. Negative ERG responses also were found in his father, who had macular degeneration, and one of the proband's three children who showed no fundus changes. No irregularities were found in their rhodopsin or peripherin/RDS genes.The condition of this family is believed to represent a previously undescribed autosomal dominant cone-rod dystrophy." @default.
- W2077295296 created "2016-06-24" @default.
- W2077295296 creator A5039327799 @default.
- W2077295296 creator A5048713563 @default.
- W2077295296 creator A5060784433 @default.
- W2077295296 creator A5078098559 @default.
- W2077295296 creator A5078188464 @default.
- W2077295296 creator A5086811494 @default.
- W2077295296 date "1995-10-01" @default.
- W2077295296 modified "2023-09-26" @default.
- W2077295296 title "Autosomal dominant cone-rod dystrophy with negative electroretinogram." @default.
- W2077295296 cites W1983926856 @default.
- W2077295296 cites W1995457345 @default.
- W2077295296 cites W1996211335 @default.
- W2077295296 cites W2006708333 @default.
- W2077295296 cites W2032421927 @default.
- W2077295296 cites W2060837290 @default.
- W2077295296 cites W2070439179 @default.
- W2077295296 cites W2077272656 @default.
- W2077295296 cites W2085914050 @default.
- W2077295296 cites W2089175919 @default.
- W2077295296 cites W2095119903 @default.
- W2077295296 cites W2108601769 @default.
- W2077295296 cites W2170817660 @default.
- W2077295296 cites W2323183345 @default.
- W2077295296 cites W49874639 @default.
- W2077295296 doi "https://doi.org/10.1136/bjo.79.10.916" @default.
- W2077295296 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/505293" @default.
- W2077295296 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7488580" @default.
- W2077295296 hasPublicationYear "1995" @default.
- W2077295296 type Work @default.
- W2077295296 sameAs 2077295296 @default.
- W2077295296 citedByCount "15" @default.
- W2077295296 countsByYear W20772952962016 @default.
- W2077295296 countsByYear W20772952962018 @default.
- W2077295296 countsByYear W20772952962020 @default.
- W2077295296 countsByYear W20772952962021 @default.
- W2077295296 crossrefType "journal-article" @default.
- W2077295296 hasAuthorship W2077295296A5039327799 @default.
- W2077295296 hasAuthorship W2077295296A5048713563 @default.
- W2077295296 hasAuthorship W2077295296A5060784433 @default.
- W2077295296 hasAuthorship W2077295296A5078098559 @default.
- W2077295296 hasAuthorship W2077295296A5078188464 @default.
- W2077295296 hasAuthorship W2077295296A5086811494 @default.
- W2077295296 hasBestOaLocation W20772952961 @default.
- W2077295296 hasConcept C103796816 @default.
- W2077295296 hasConcept C104317684 @default.
- W2077295296 hasConcept C118487528 @default.
- W2077295296 hasConcept C142724271 @default.
- W2077295296 hasConcept C188997412 @default.
- W2077295296 hasConcept C202033177 @default.
- W2077295296 hasConcept C2776391266 @default.
- W2077295296 hasConcept C2777017193 @default.
- W2077295296 hasConcept C2779113765 @default.
- W2077295296 hasConcept C2780827179 @default.
- W2077295296 hasConcept C2781114197 @default.
- W2077295296 hasConcept C28521208 @default.
- W2077295296 hasConcept C501734568 @default.
- W2077295296 hasConcept C54355233 @default.
- W2077295296 hasConcept C71924100 @default.
- W2077295296 hasConcept C86803240 @default.
- W2077295296 hasConceptScore W2077295296C103796816 @default.
- W2077295296 hasConceptScore W2077295296C104317684 @default.
- W2077295296 hasConceptScore W2077295296C118487528 @default.
- W2077295296 hasConceptScore W2077295296C142724271 @default.
- W2077295296 hasConceptScore W2077295296C188997412 @default.
- W2077295296 hasConceptScore W2077295296C202033177 @default.
- W2077295296 hasConceptScore W2077295296C2776391266 @default.
- W2077295296 hasConceptScore W2077295296C2777017193 @default.
- W2077295296 hasConceptScore W2077295296C2779113765 @default.
- W2077295296 hasConceptScore W2077295296C2780827179 @default.
- W2077295296 hasConceptScore W2077295296C2781114197 @default.
- W2077295296 hasConceptScore W2077295296C28521208 @default.
- W2077295296 hasConceptScore W2077295296C501734568 @default.
- W2077295296 hasConceptScore W2077295296C54355233 @default.
- W2077295296 hasConceptScore W2077295296C71924100 @default.
- W2077295296 hasConceptScore W2077295296C86803240 @default.
- W2077295296 hasLocation W20772952961 @default.
- W2077295296 hasLocation W20772952962 @default.
- W2077295296 hasLocation W20772952963 @default.
- W2077295296 hasLocation W20772952964 @default.
- W2077295296 hasOpenAccess W2077295296 @default.
- W2077295296 hasPrimaryLocation W20772952961 @default.
- W2077295296 hasRelatedWork W1487259591 @default.
- W2077295296 hasRelatedWork W2001098516 @default.
- W2077295296 hasRelatedWork W2077295296 @default.
- W2077295296 hasRelatedWork W2097179721 @default.
- W2077295296 hasRelatedWork W2335525481 @default.
- W2077295296 hasRelatedWork W2428998014 @default.
- W2077295296 hasRelatedWork W2431403775 @default.
- W2077295296 hasRelatedWork W2773793987 @default.
- W2077295296 hasRelatedWork W3014513769 @default.
- W2077295296 hasRelatedWork W3216386400 @default.
- W2077295296 isParatext "false" @default.
- W2077295296 isRetracted "false" @default.
- W2077295296 magId "2077295296" @default.
- W2077295296 workType "article" @default.